Nancy Codoner

It’s time to redefine rare disease

By Nancy Codoner

Senior VP, Director of Market Access

McCann Health Managed Markets

It’s hard to address something that you cannot define. Rare disease management is a high priority for payers. In a recent rare disease trend report, 90% of surveyed payer respondents ranked rare disease management as a high or moderate priority. This is due primarily to the significant budget impact of therapies that may be in the hundreds of thousands of dollars. “Payers are concerned because there is seldom a medical cost-offset with many of these orphan drugs, and as we see gene therapies coming to market, there are even more questions and uncertainties about price and value,” says Greg Novello, executive VP, director of strategy at McCann Health Managed Markets. 

Today, rare disease has become a broader category with new discoveries and technologies. In the United States, the FDA defines rare disease as a condition that affects fewer than 200,000 people (approximately 620 patients per million of population). However, within the rare disease category also is the “ultrarare disease” group of conditions. And here’s the catch – there is no consensus or clarity on how to define ultrarare disease, so these diseases present an even greater challenge for access decision-makers. 

We may need to define different tiers of rare disease

In Europe, a disease is considered ultrarare if it affects 1 person per 50,000 people (fewer than 20 patients per million of population). In the United States, there is no single accepted definition. An additional challenge in ultrarare disease from a payer perspective is the studies have a very small sample size. “This is sometimes called a ‘case study’ and is often not given the same weight by decision makers as larger studies that can include randomized control studies,” explained a pharmacy director who sits on McCann’s proprietary payer panel. “This creates a situation where approval may be on the basis of an appeal instead of being approved initially.”

Some payers feel that the rare disease category is defined too broadly. This drives the need to further investigate the connection between therapies categorized as orphan versus those that treat ultrarare diseases (ultra-orphan drugs). “How do we define categories of these therapies?” asked a medical director who sits on McCann’s proprietary payer panel.

“A payer may never encounter a patient with an ultrarare disease,” explained a pharmacy director who is also a member of the panel. “So communications and planning for ultrarare therapies need to be strategic and involve precision analysis and potentially genetic data profiling, targeted to when patients are identified rather than general prevalence.”

Market dynamics are changing at a rapid pace

More than 95 percent of rare diseases do not have an approved therapy for treatment. Innovations such as gene therapy and RNA interference (RNAi) technology are changing the treatment landscape in a few areas, even in diseases that previously had no FDA-approved treatment. But while these technologies bring hope for more curative solutions in rare disease, there is also trepidation associated with the costs that come with them for payers, providers, and patients. Several manufacturers have prioritized stakeholder education focused on the science behind the disease and the therapies in order to establish the value of each product. It isn’t enough to explain how it works, but also show why it works.

New technologies have also led to new diagnostics and testing requirements. This is where precision medicine is required, and payers may need to explore coverage policies for rare disease to cover required testing. In turn, manufacturers could explore programs that support appropriate diagnostic testing and provide resources in partnership with payers and providers to ensure the right patients receive therapy. 

With so many changes within rare disease, payers will have some decisions to make. “We’ll need to consider out-of-network exceptions and referrals,” the medical director said. “And expect care for ultrarare diseases to be almost entirely on exceptions due to unique patients, providers, diagnostics, and therapeutics. We need to learn to operate efficiently in this environment.”

Opportunities to support the changing dynamics

Payers are looking for data that are meaningful and help support management decisions. Many manufacturers are exploring the impact of the emotional burden of rare diseases on patients and caregivers, and the role burden plays in the overall story. It is not unusual for rare diseases to be misdiagnosed, adding time that could result in symptoms and family emotional burden. Although patient-reported outcomes (PROs) are not heavily weighted for many chronic diseases, in rare diseases their meaning is different. Consider whether the data being collected are subjective or objective, and if they are captured through patient monitoring devices or surveys. Payers indicate that behavioral health-related PROs would elevate the value of that data for specific diseases.

Decision-makers struggle with the challenges in managing rare disease, and ultrarare diseases bring bigger challenges. However, the physical and emotion burden on patients, plus barriers that providers may face in treating these patients, open the door for different approaches to engagement and management. Advocacy groups play a large role in patient education and support, offering a community for those patients and a place they can perhaps find answers. There may be opportunities for manufacturers to support key initiatives and engagements.

Because payers are not likely to have rare disease specialists within their immediate network, payers do look to manufacturers for education on a specific rare disease, including treatment and monitoring. The COVID-19 pandemic put manufacturers in a more positive light, and a great deal of credibility and trust was earned across all stakeholders. In fact, some manufacturers quickly introduced new treatment technologies to the world and have the opportunity to continue these conversations in a different arena. Payers are keen to understand the how and why behind the technologies and look into the future to see the pipeline for orphan drugs, diagnostics, and devices in rare disease. 

“If you look at what these organizations are exploring already for that [RNAi] technology, there’s going to be a whole host of rare diseases and super rare diseases that are going to have treatments that weren’t even in anybody’s dreams two years ago,” said the pharmacy director enthusiastically.